Canonical Allele Identifier: CA458500702

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1219221834
• gnomAD v2: 7-147183036-C-T
• gnomAD v4: 7-147485944-C-T
• COSMIC: COSM3879073
• MyVariant Identifiers: chr7:g.147183036C>T (hg19) ; chr7:g.147485944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147485944C>T , CM000669.2:g.147485944C>T	GRCh38
NC_000007.13:g.147183036C>T , CM000669.1:g.147183036C>T	GRCh37
NC_000007.12:g.146813969C>T	NCBI36
NG_007092.2:g.1374584C>T
NG_007092.3:g.1374944C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1680C>T MANE Select	ENSP00000354778.3:p.Pro560=
ENST00000636870.1:n.1542C>T
ENST00000637694.1:n.1583C>T
ENST00000637825.1:n.1163C>T
ENST00000638117.1:n.1583C>T
ENST00000361727.7:c.1680C>T	ENSP00000354778.3:p.Pro560=
NM_014141.5:c.1680C>T	NP_054860.1:p.Pro560=
XM_006715919.1:c.168C>T	XP_006715982.1:p.Pro56=
XM_017011950.2:c.1680C>T	XP_016867439.1:p.Pro560=
NM_014141.6:c.1680C>T MANE Select	NP_054860.1:p.Pro560=